Variant report

Variant	rs1030961
Chromosome Location	chr7:138207575-138207576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138205781..138207854-chr7:138211027..138215042,3	K562	blood:
2	chr7:138205992..138209636-chr7:138210985..138213741,4	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10155993	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10215281	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10227693	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10232771	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247380	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10248731	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10258706	0.85[ASN][1000 genomes]
rs1077772	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11976614	0.87[ASN][1000 genomes]
rs12112459	0.91[ASN][1000 genomes]
rs12666310	0.85[ASN][1000 genomes]
rs1363053	0.95[CEU][hapmap];0.81[AMR][1000 genomes]
rs1421604	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1544733	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673203	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1673204	0.83[ASN][1000 genomes]
rs1673205	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1673206	0.86[ASN][1000 genomes]
rs1673207	0.81[ASN][1000 genomes]
rs17364560	0.87[ASN][1000 genomes]
rs17461551	0.93[ASN][1000 genomes]
rs1813003	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1874326	0.94[CEU][hapmap]
rs2353354	0.85[ASN][1000 genomes]
rs2353355	0.89[ASN][1000 genomes]
rs3757381	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778705	0.85[CEU][hapmap];0.88[ASN][1000 genomes]
rs3807155	0.92[ASN][1000 genomes]
rs3807156	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3807157	0.82[ASN][1000 genomes]
rs3816192	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55723768	0.88[ASN][1000 genomes]
rs56092804	0.88[ASN][1000 genomes]
rs57407834	0.87[ASN][1000 genomes]
rs58562866	0.91[ASN][1000 genomes]
rs62485263	0.87[ASN][1000 genomes]
rs62485264	0.86[ASN][1000 genomes]
rs62487615	0.85[ASN][1000 genomes]
rs62487616	0.86[ASN][1000 genomes]
rs62487619	0.88[ASN][1000 genomes]
rs6467776	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467778	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467780	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467782	0.94[CEU][hapmap];0.92[ASN][1000 genomes]
rs6467783	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6944764	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6948094	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6954285	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6959574	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963539	0.87[ASN][1000 genomes]
rs6970175	0.88[ASN][1000 genomes]
rs6974877	0.88[ASN][1000 genomes]
rs6978524	0.83[ASN][1000 genomes]
rs728092	0.90[ASN][1000 genomes]
rs749546	0.83[ASN][1000 genomes]
rs7795981	0.88[ASN][1000 genomes]
rs7808392	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs888609	0.83[ASN][1000 genomes]
rs9791462	0.87[ASN][1000 genomes]
rs985299	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
2	chr7:138178600-138212200	Weak transcription	NHLF	lung
3	chr7:138186600-138210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:138188400-138209800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr7:138188800-138210400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:138188800-138210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:138190200-138212200	Weak transcription	HMEC	breast
8	chr7:138192000-138212200	Weak transcription	Stomach Mucosa	stomach
9	chr7:138194000-138212000	Weak transcription	NHDF-Ad	bronchial
10	chr7:138195200-138212200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:138196800-138209400	Strong transcription	Dnd41	blood
12	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:138197400-138208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:138197400-138210600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:138197400-138212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:138197600-138208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:138197600-138208600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:138197600-138209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:138197600-138210400	Weak transcription	A549	lung
20	chr7:138197600-138211800	Weak transcription	Fetal Brain Male	brain
21	chr7:138197600-138212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:138198000-138210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:138198000-138212200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:138199200-138208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:138199200-138212200	Weak transcription	Brain Anterior Caudate	brain
26	chr7:138199400-138210400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:138199400-138212400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:138199800-138209000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:138200000-138210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:138200200-138210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:138200200-138210600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:138200400-138209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:138200600-138208200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:138201000-138208600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:138201200-138208000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:138201200-138212200	Strong transcription	Liver	Liver
37	chr7:138201400-138207800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:138201800-138210600	Weak transcription	Esophagus	oesophagus
39	chr7:138202200-138212200	Weak transcription	Small Intestine	intestine
40	chr7:138203600-138207800	Strong transcription	K562	blood
41	chr7:138203600-138210200	Strong transcription	Fetal Lung	lung
42	chr7:138203800-138207600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:138204200-138211600	Weak transcription	Fetal Heart	heart
44	chr7:138204400-138210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:138204400-138210600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:138204400-138210600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:138204400-138210600	Weak transcription	Brain Angular Gyrus	brain
48	chr7:138204400-138212000	Weak transcription	Brain Substantia Nigra	brain
49	chr7:138204400-138212200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:138204400-138212200	Weak transcription	Stomach Smooth Muscle	stomach

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